Results 81 to 90 of about 354,424 (374)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

FR 50% in pregnancy results in different neuron and glial cell count (astrocytes, olygodendrocytes, and microglia) in the cerebrum and cerebellum of newborn Rattus norvegicus

Majalah Obstetri dan Ginekologi, 2019
Objectives: To analyze the difference neuronal and glial (astrocytes, oligodendrocyte, microglia) cell count in cerebrum and cerebellum of Rattus norvegicus newborns with 50% food restriction and control group.
Fitria Desky, Hermanto Tri Joewono, Widjiati Widjiati   +2 more
doaj   +1 more source

The cerebellum and motor dysfunction in neuropsychiatric disorders [PDF]

, 2007
The cerebellum is densely interconnected with sensory-motor areas of the cerebral cortex, and in man, the great expansion of the association areas of cerebral cortex is also paralleled by an expansion of the lateral cerebellar hemispheres.
Gowen, Emma, Miall, R. Chris
core   +3 more sources

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Histological Study of The Cerebellum In Adult Quail Coturnix coturnix (Linnaeus, 1858)

Ibn Al-Haitham Journal for Pure and Applied Sciences, 2017
 A histological study was conducted to examine the structure of Cerebellum in Coturnix coturnix (Linnaeus). The results showed that the cerebellum is a portion of the Rhombencephalon and Metencephalon lying behind the cerebrum, the surface of the ...
Asmaa B.Abid , Nahla A. Al-Bakri
doaj  

Norepinephrine release in the cerebellum contributes to aversive learning

Nature Communications, 2023
The modulation of dopamine release from midbrain projections to the striatum has long been demonstrated in reward-based learning, but the synaptic basis of aversive learning is far less characterized.
Adrien T. Stanley, Michael R. Post, Clay Lacefield, David Sulzer, Maria Concetta Miniaci   +4 more
doaj   +1 more source

Adaptive Internal Models: Explaining the Oculomotor System and the Cerebellum [PDF]

arXiv, 2019
We propose a new model of the oculomotor system, particularly the vestibulo-ocular reflex, gaze fixation, and smooth pursuit. Our key insight is to exploit recent developments on adaptive internal models. The outcome is a simple model that includes the interactions between the brainstem and the cerebellum and that recovers behaviors from more than 15 ...
arxiv  

The Cerebellum and Migraine [PDF]

Headache: The Journal of Head and Face Pain, 2007
Clinical and pathophysiological evidences connect migraine and the cerebellum. Literature on documented cerebellar abnormalities in migraine, however, is relatively sparse. Cerebellar involvement may be observed in 4 types of migraines: in the widespread migraine with aura (MWA) and migraine without aura (MWoA) forms; in particular subtypes of migraine
Maurice Vincent, Nouchine Hadjikhani
openaire   +3 more sources

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source